E57* (p.Glu57Ter) variant of BEST1 (Bestrophin-1)
E57* (p.Glu57Ter) in BEST1 (Bestrophin-1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
E57* (p.Glu57Ter) variant details
- p.Glu57Ter
- rs1382219910
- ClinGen CA380833520
- ClinVar RCV001073429
- gnomAD rs1382219910
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.254
- CADD 12.20
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available